Studies on Copper Metabolism. XIII. Hepatolenticular Degeneration1

Detection of the Heterozygous Carrier of the Wilson's Disease Gene*

“…The patient in whom Wilson's disease is, or will be, clinically manifest exhibits four abnormalities of copper metabolism: 1) a persistent deficiency or absence of normal ceruloplasmins, the blue, plasma copper-proteins (3,5,6); 2) an increased concentration of loosely bound, non-ceruloplasmin copper in serum (6, 7); 3) an increased copper content of many organs and tissues (6, the urine (3,6,11,14). Although the mechanism is only partly understood, several investigators (3,11,15,16) believe that the first two of these derangements lead to the third, the pathological effects of which constitute Wilson's disease.…”

Studies on Copper Metabolism. Xiv. Copper, Cerulo-Plasmin and Oxidase Activity in Sera of Normal Human Subjects, Pregnant Women, and Patients With Infection, Hepatolenticular Degeneration and the Nephrotic Syndrome 1

“…It is now known that hypocupremia is present in most patients with Wilson's disease (8,12,13) and in some patients with the nephrotic syndrome (14). In Wilson's disease it has been demonstrated that there is a marked decrease in the indirect-reacting fraction of plasma copper and an increase in the direct-reacting fraction (13).…”

The metabolism of copper and Wilson's disease

“…It has been suggested that in Wilson's disease there is an increased absorption of Cu from the gut (Zimdahl, Hyman & Cook, 1953; Wintrobe, Cartwright, Hodges, Gubler, Mahoney, Daum & Bean, 1954). It is known also that there is an excess of 'direct reacting' Cu in the blood (Cartwright et al 1954) which indicates an excess of Cu loosely bound in albumin.…”

“…It is known also that there is an excess of 'direct reacting' Cu in the blood (Cartwright et al 1954) which indicates an excess of Cu loosely bound in albumin.…”